Mutations in ABCC6 cause pseudoxanthoma elasticum

Arthur A.B. Bergen, Astrid S. Plomp, Ellen J. Schuurman, Sharon Terry, Martijn Breuning, Hans Dauwerse, Jaap Swart, Marcel Kool, Simone Van Soest, Frank Baas, Jacoline B. Ten Brink, Paulus T.V.M. De Jong

Research output: Contribution to journalArticlepeer-review

503 Citations (Scopus)

Abstract

Pseudoxanthoma elasticum (PXE) is a heritable disorder of the connective tissue. PXE patients frequently experience visual field loss and skin lesions, and occasionally cardiovascular complications. Histopathological findings reveal calcification of the elastic fibres and abnormalities of the collagen fibrils. Most PXE patients are sporadic, but autosomal recessive and dominant inheritance are also observed. We previously localized the PXE gene to chromosome 16p13.1 (refs 8,9) and constructed a physical map. Here we describe homozygosity mapping in five PXE families and the detection of deletions or mutations in ABCC6(formerly MRP6) associated with all genetic forms of PXE in seven patients or families.

Original languageEnglish
Pages (from-to)228-231
Number of pages4
JournalNature Genetics
Volume25
Issue number2
DOIs
Publication statusPublished - Jun 2000
Externally publishedYes

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